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1.
BMJ Case Rep ; 13(2)2020 Feb 28.
Artigo em Inglês | MEDLINE | ID: mdl-32114497

RESUMO

Congenital adrenal hyperplasia due to 11ß-hydroxylase deficiency (11-BHD) and primary glucocorticoid resistance syndrome (PGRS) are two relatively uncommon causes of gonadotropin-releasing hormone-independent isosexual male precocity; PGRS, however, is considerably rarer than 11-BHD. Other than serum and urinary cortisol, which are elevated in PGRS and low/low-normal in 11-BHD, both of these conditions are indistinguishable by clinical, biochemical or radiological parameters. In 11-BHD, oxidation of 11-deoxycortisol (11-DOC) to cortisol is impaired, resulting in accumulation of 11-DOC and other cortisol precursors. 11-DOC shares structural homology with cortisol, and falsely elevated serum cortisol values are observed in older generation immunoassays (Siemens ADVIA Centaur) due to antibody cross-reactivity. 11-BHD, thus, may be misdiagnosed as PGRS. Structure-based cortisol assays are not widely available in low-income countries. Hence, immunoassays using highly specific antibodies against cortisol are required to ensure assay selectivity. Newer generation analysers probably are effective alternatives to liquid chromatography-tandem mass spectrometry in conditions associated with 11ß-hydroxylase defect.


Assuntos
Hiperplasia Suprarrenal Congênita/tratamento farmacológico , Hidrocortisona/uso terapêutico , Puberdade Precoce/tratamento farmacológico , Puberdade Precoce/etiologia , Hiperplasia Suprarrenal Congênita/complicações , Anti-Inflamatórios/uso terapêutico , Pré-Escolar , Países em Desenvolvimento , Diagnóstico Diferencial , Humanos , Masculino
2.
J Pediatr Adolesc Gynecol ; 33(4): 339-342, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32035994

RESUMO

STUDY OBJECTIVE: Puberty is a normal process for adolescents, and the first signs may include change in body odor, breast development, or pubic hair growth. This is then followed by menarche approximately 2 years later. Vaginal bleeding in pre-pubertal female individuals is rare. The aim of this study was to investigate causes of pre-pubertal bleeding in a group of patients. DESIGN, SETTING, METHOD, AND MAIN OUTCOME MEASURES: Seventeen patients who presented with pre-pubertal recurrent vaginal bleeding with no other signs of precocious puberty were investigated, to determine the cause of this symptom. RESULTS: The mean age for the onset of vaginal bleeding was 7.4 years, ranging from 4 to 9.67 years. Gonadotrophin-releasing hormone (GnRH) stimulation tests showed a pre-pubertal response in all cases. Pelvic ultrasound scans showed a pre-pubertal uterus in all patients. Two patients were found to have foreign bodies identified during a genital examination under anesthetic, and in both cases removal of the foreign bodies terminated the vaginal bleeding. CONCLUSION: In conclusion, recurrent vaginal bleeding was not associated with GnRH response, raised estradiol levels, or abnormal pelvic ultrasound findings. In cases of recurrent vaginal bleeding with normal hormonal investigations in pre-pubertal girls, it is recommended that a genital examination under anesthetic be undertaken to rule out undiagnosed causes of the presenting symptom.


Assuntos
Puberdade Precoce/etiologia , Hemorragia Uterina/etiologia , Criança , Pré-Escolar , Feminino , Hormônio Liberador de Gonadotropina/análise , Exame Ginecológico/métodos , Humanos , Puberdade/fisiologia , Ultrassonografia , Hemorragia Uterina/diagnóstico
3.
Indian Pediatr ; 57(1): 63-64, 2020 01 15.
Artigo em Inglês | MEDLINE | ID: mdl-31937701

RESUMO

We retrospectively analyzed clinic records of 55 children (36 girls) with precocious puberty. Majority (34, 62%) had central precocious puberty, out of which 19 were idiopathic. Peripheral precocious puberty was seen in 14 children. Congenital adrenal hyperplasia was the commonest cause of peripheral precocious puberty (6, 42.8%).


Assuntos
Puberdade Precoce/epidemiologia , Puberdade Precoce/etiologia , Hiperplasia Suprarrenal Congênita/complicações , Hiperplasia Suprarrenal Congênita/epidemiologia , Criança , Pré-Escolar , Feminino , Humanos , Índia , Masculino , Estudos Retrospectivos
5.
Pan Afr Med J ; 36: 226, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33708317

RESUMO

Congenital adrenal hyperplasia refers to a group of rare genetic disorders affecting the adrenal glands. 21-hydroxylase deficiency is the most prevalent and the most studied cause while the remaining enzymatic defects are less common, accounting for less than 10% of cases. We herein described the clinical, biological and molecular characteristics and outcome of patients of the same family diagnosed with 11-Beta-hydroxylase deficiency. The disorder was revealed by peripheral precocious puberty between the age of 2-3 years in males and by the virilization of the external genitalia in females. Genetics finding a homozygous p.Gly379Val mutation in the CYP11B1 gene. All patients received hydrocortisone supplementation therapy and mineralocorticoid-receptor antagonist. The females underwent a surgical correction of the ambiguous genitalia at the neonatal age. Long term follow-up revealed metabolic syndrome, obesity and hypertension in the first two patients, an impaired final height in the two females and hypokalemia in three patients.


Assuntos
Hiperplasia Suprarrenal Congênita/diagnóstico , Esteroide 11-beta-Hidroxilase/genética , Hiperplasia Suprarrenal Congênita/genética , Hiperplasia Suprarrenal Congênita/fisiopatologia , Adulto , Criança , Feminino , Seguimentos , Humanos , Hidrocortisona/administração & dosagem , Masculino , Antagonistas de Receptores de Mineralocorticoides/administração & dosagem , Mutação , Puberdade Precoce/etiologia , Tunísia
6.
Rev. chil. pediatr ; 90(6): 598-605, dic. 2019. tab
Artigo em Espanhol | LILACS | ID: biblio-1058190

RESUMO

INTRODUCCIÓN: La radioterapia, quimioterapia y la cirugía empleada en el tratamiento de los tumores cerebrales tienen efectos en el eje hipotálamo-hipofisario y pueden resultar en disfunción endocrina hasta en el 96% de los casos. PACIENTES Y MÉTODO: Estudio retrospectivo y descriptivo en pacientes diagnos ticados de meduloblastoma sometidos a tratamiento con quimio y radioterapia en los últimos 20 años en un hospital terciario. Se analizan variables edad, sexo, peso, talla, índice de masa corporal (IMC) al final del seguimiento, estadio de maduración sexual, niveles séricos de TSH y T4 libre, ACTH/cortisol e IGF-1, FSH, LH, estradiol, testosterona, perfil lipídico (colesterol total) y prueba de función dinámica de hormona de crecimiento. RESULTADOS: Muestra total de 23 pacientes. El déficit de hormona de crecimiento es la secuela más frecuente (82 %) seguido de disfunción ti roidea (44,8%) y disfunción puberal (24,1%). Solo se diagnosticó un caso de diabetes insípida y 2 casos de déficit de corticotrofina. CONCLUSIONES: El seguimiento a largo plazo de los supervivientes de meduloblastoma tratados con quimio y radioterapia revela una prevalencia muy alta de disfun ción endocrina, particularmente de deficiencia de hormona del crecimiento y de hipotiroidismo. Creemos oportuna la monitorización y el seguimiento a largo plazo de estos pacientes con el fin de garantizar un manejo terapéutico adecuado de aquellas disfunciones tratables.


INTRODUCTION: Radiation therapy, chemotherapy, and surgery used to treat brain tumors have effects on the hy pothalamic-pituitary-adrenal axis and can result in endocrine dysfunction in up to 96% of cases. PATIENTS Y METHOD: Retrospective and descriptive study in patients diagnosed with medulloblasto ma who underwent treatment with chemo and radiotherapy in the last 20 years in a tertiary hospital. The variables analyzed were age, sex, weight, height, body mass index (BMI) at the end of follow-up, sexual maturity stage, serum levels of TSH and free T4, ACTH/cortisol and IGF-1, FSH, LH, estradiol, testosterone, lipid profile (total cholesterol), and growth hormone dynamic function test. RESULTS: Total sample of 23 patients. Growth hormone deficiency is the most frequent sequelae (82%) fo llowed by thyroid dysfunction (44.8%), and disorders of puberty (24.1%). Only one case of diabetes insipidus and two cases of corticotropin deficiency were diagnosed. CONCLUSIONS: Long-term follow- up of medulloblastoma survivors treated with chemo and radiotherapy reveals a very high prevalence of endocrine dysfunction, especially growth hormone deficiency and hypothyroidism. We believe that monitoring and long-term follow-up of these patients is necessary in order to ensure adequate therapeutic management of those treatable dysfunctions.


Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Criança , Neoplasias Cerebelares/terapia , Quimiorradioterapia/efeitos adversos , Meduloblastoma/terapia , Puberdade Precoce/etiologia , Doenças da Glândula Tireoide/etiologia , Neoplasias Cerebelares/sangue , Estudos Retrospectivos , Hormônio Adrenocorticotrópico/deficiência , Hormônio do Crescimento Humano/deficiência , Diabetes Insípido/etiologia , Doenças do Sistema Endócrino/etiologia , Sobrepeso/etiologia , Sobreviventes de Câncer , Hipogonadismo/etiologia , Meduloblastoma/sangue
7.
J Clin Endocrinol Metab ; 104(12): 6101-6115, 2019 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-31373627

RESUMO

CONTEXT: Data on hypothalamic-pituitary (HP) disorders in systematically evaluated childhood cancer survivors are limited. OBJECTIVE: To describe prevalence, risk factors, and associated adverse health outcomes of deficiencies in GH deficiency (GHD), TSH deficiency (TSHD), LH/FSH deficiency (LH/FSHD), and ACTH deficiency (ACTHD), and central precocious puberty (CPP). DESIGN: Retrospective with cross-sectional health outcomes analysis. SETTING: Established cohort; tertiary care center. PATIENTS: Participants (N = 3141; median age, 31.7 years) were followed for a median 24.1 years. MAIN OUTCOME MEASURE: Multivariable logistic regression was used to calculate ORs and 95% CIs for associations among HP disorders, tumor- and treatment-related risk factors, and health outcomes. RESULTS: The estimated prevalence was 40.2% for GHD, 11.1% for TSHD, 10.6% for LH/FSHD, 3.2% for ACTHD, and 0.9% for CPP among participants treated with HP radiotherapy (n = 1089), and 6.2% for GHD, and <1% for other HP disorders without HP radiotherapy. Clinical factors independently associated with HP disorders included HP radiotherapy (at any dose for GHD, TSHD, LH/FSHD, >30 Gy for ACTHD), alkylating agents (GHD, LH/FSHD), intrathecal chemotherapy (GHD), hydrocephalus with shunt placement (GHD, LH/FSHD), seizures (TSHD, ACTHD), and stroke (GHD, TSHD, LH/FSHD, ACTHD). Adverse health outcomes independently associated with HP disorders included short stature (GHD, TSHD), severe bone mineral density deficit (GHD, LH/FSHD), obesity (LH/FSHD), frailty (GHD), impaired physical health-related quality of life (TSHD), sexual dysfunction (LH/FSHD), impaired memory, and processing speed (GHD, TSHD). CONCLUSION: HP radiotherapy, central nervous system injury, and, to a lesser extent, chemotherapy are associated with HP disorders, which are associated with adverse health outcomes.


Assuntos
Sobreviventes de Câncer/estatística & dados numéricos , Doenças Hipotalâmicas , Doenças da Hipófise , Adolescente , Hormônio Adrenocorticotrópico/deficiência , Adulto , Idoso , Neoplasias do Sistema Nervoso Central/tratamento farmacológico , Neoplasias do Sistema Nervoso Central/epidemiologia , Neoplasias do Sistema Nervoso Central/radioterapia , Criança , Pré-Escolar , Estudos de Coortes , Irradiação Craniana/efeitos adversos , Irradiação Craniana/estatística & dados numéricos , Estudos Transversais , Feminino , Hormônio Foliculoestimulante/deficiência , Transtornos do Crescimento/epidemiologia , Transtornos do Crescimento/etiologia , Hormônio do Crescimento Humano/deficiência , Humanos , Doenças Hipotalâmicas/diagnóstico , Doenças Hipotalâmicas/epidemiologia , Doenças Hipotalâmicas/etiologia , Hipotireoidismo/epidemiologia , Hipotireoidismo/etiologia , Lactente , Recém-Nascido , Hormônio Luteinizante/deficiência , Masculino , Pessoa de Meia-Idade , Doenças da Hipófise/diagnóstico , Doenças da Hipófise/epidemiologia , Doenças da Hipófise/etiologia , Prevalência , Prognóstico , Puberdade Precoce/epidemiologia , Puberdade Precoce/etiologia , Estudos Retrospectivos , Fatores de Risco , Resultado do Tratamento , Adulto Jovem
8.
Arch Endocrinol Metab ; 63(4): 438-444, 2019 Aug 22.
Artigo em Inglês | MEDLINE | ID: mdl-31460623

RESUMO

Pubertal timing in humans is determined by complex interactions including hormonal, metabolic, environmental, ethnic, and genetic factors. Central precocious puberty (CPP) is defined as the premature reactivation of the hypothalamic-pituitary-gonadal axis, starting before the ages of 8 and 9 years in girls and boys, respectively; familial CPP is defined by the occurrence of CPP in two or more family members. Pioneering studies have evidenced the participation of genetic factors in pubertal timing, mainly identifying genetic causes of CPP in sporadic and familial cases. In this context, rare activating mutations were identified in genes of the kisspeptin excitatory pathway (KISS1R and KISS1 mutations). More recently, loss-of-function mutations in two imprinted genes (MKRN3 and DLK1) have been identified as important causes of familial CPP, describing novel players in the modulation of the hypothalamic-pituitary-gonadal axis in physiological and pathological conditions. MKRN3 mutations are the most common cause of familial CPP, and patients with MKRN3 mutations present clinical features indistinguishable from idiopathic CPP. Meanwhile, adult patients with DLK1 mutations present high frequency of metabolic alterations (overweight/obesity, early onset type 2 diabetes and hyperlipidemia), indicating that DLK1 may be a novel link between reproduction and metabolism. Arch Endocrinol Metab. 2019;63(4):438-44.


Assuntos
Puberdade Precoce/genética , Proteínas de Ligação ao Cálcio , Inativação Gênica , Humanos , Peptídeos e Proteínas de Sinalização Intercelular/genética , Peptídeos e Proteínas de Sinalização Intercelular/metabolismo , Kisspeptinas/genética , Proteínas de Membrana/genética , Proteínas de Membrana/metabolismo , Metilação , Mutação , Fenótipo , Puberdade Precoce/etiologia , Receptores de Kisspeptina-1/genética , Ribonucleoproteínas/genética , Ubiquitina-Proteína Ligases
9.
Arch. endocrinol. metab. (Online) ; 63(4): 438-444, July-Aug. 2019. tab, graf
Artigo em Inglês | LILACS | ID: biblio-1019366

RESUMO

ABSTRACT Pubertal timing in humans is determined by complex interactions including hormonal, metabolic, environmental, ethnic, and genetic factors. Central precocious puberty (CPP) is defined as the premature reactivation of the hypothalamic-pituitary-gonadal axis, starting before the ages of 8 and 9 years in girls and boys, respectively; familial CPP is defined by the occurrence of CPP in two or more family members. Pioneering studies have evidenced the participation of genetic factors in pubertal timing, mainly identifying genetic causes of CPP in sporadic and familial cases. In this context, rare activating mutations were identified in genes of the kisspeptin excitatory pathway (KISS1R and KISS1 mutations). More recently, loss-of-function mutations in two imprinted genes (MKRN3 and DLK1) have been identified as important causes of familial CPP, describing novel players in the modulation of the hypothalamic-pituitary-gonadal axis in physiological and pathological conditions. MKRN3 mutations are the most common cause of familial CPP, and patients with MKRN3 mutations present clinical features indistinguishable from idiopathic CPP. Meanwhile, adult patients with DLK1 mutations present high frequency of metabolic alterations (overweight/obesity, early onset type 2 diabetes and hyperlipidemia), indicating that DLK1 may be a novel link between reproduction and metabolism. Arch Endocrinol Metab. 2019;63(4):438-44


Assuntos
Humanos , Puberdade Precoce/genética , Fenótipo , Puberdade Precoce/etiologia , Ribonucleoproteínas/genética , Proteínas de Ligação ao Cálcio , Inativação Gênica , Peptídeos e Proteínas de Sinalização Intercelular/genética , Peptídeos e Proteínas de Sinalização Intercelular/metabolismo , Kisspeptinas/genética , Receptores de Kisspeptina-1/genética , Proteínas de Membrana/genética , Proteínas de Membrana/metabolismo , Metilação , Mutação
10.
Artigo em Inglês | MEDLINE | ID: mdl-31343141

RESUMO

We present a rare occurrence of precocious puberty (PP) probably due to an autonomous ovarian cyst in a 15-month-old girl who presented to us with growth spurt, breast and pubic hair development, and vaginal bleeding over the last few months. The clinical presentation was suggestive of central precocious puberty (CPP). However, the rapid progression of pubertal changes and occurrence of menarche at breast Tanner stage 2 indicated peripheral precocious puberty (PPP). Due to uncertainty of clinical diagnosis, investigations were conducted for CPP as well as PPP. The basal and peak stimulated LH concentrations were < 0.3 IU/l and < 2 IU/l, respectively, indicating PPP. However, the peak LH : FSH ratio was > 1, which is consistent with CPP. Abdominal imaging revealed an ovarian mass, which was laparoscopically excised, but the true nature of the mass could not be ascertained because the excised specimen showed only haemorrhage and features of ovarian torsion on histopathological examination. Regression of pubertal development occurred over a three-month period postoperatively.


Assuntos
Cistos Ovarianos/complicações , Puberdade Precoce/etiologia , Feminino , Humanos , Índia , Lactente , Cistos Ovarianos/diagnóstico , Cistos Ovarianos/diagnóstico por imagem , Cistos Ovarianos/cirurgia , Puberdade Precoce/diagnóstico
11.
Horm Res Paediatr ; 91(5): 293-310, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31302655

RESUMO

Tall stature and/or accelerated growth (TS/AG) in a child can be the result of a primary or secondary growth disorder, but more frequently no cause can be found (idiopathic TS). The conditions with the most important therapeutic implications are Klinefelter syndrome, Marfan syndrome and secondary growth disorders such as precocious puberty, hyperthyroidism and growth hormone excess. We propose a diagnostic flow chart offering a systematic approach to evaluate children referred for TS/AG to the general paediatrician. Based on the incidence, prevalence and clinical features of medical conditions associated with TS/AG, we identified relevant clues for primary and secondary growth disorders that may be obtained from the medical history, physical evaluation, growth analysis and additional laboratory and genetic testing. In addition to obtaining a diagnosis, a further goal is to predict adult height based on growth pattern, pubertal development and skeletal maturation. We speculate that an improved diagnostic approach in addition to expanding use of genetic testing may increase the diagnostic yield and lower the age at diagnosis of children with a pathologic cause of TS/AG.


Assuntos
Acromegalia/diagnóstico , Transtornos do Crescimento/diagnóstico , Puberdade Precoce/diagnóstico , Acromegalia/etiologia , Criança , Pré-Escolar , Feminino , Transtornos do Crescimento/etiologia , Humanos , Hipertireoidismo/complicações , Hipertireoidismo/diagnóstico , Síndrome de Klinefelter/complicações , Síndrome de Klinefelter/diagnóstico , Masculino , Síndrome de Marfan/complicações , Síndrome de Marfan/diagnóstico , Puberdade Precoce/etiologia
13.
J Pediatr Adolesc Gynecol ; 32(5): 455-459, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31158483

RESUMO

Precocious puberty (PP) in girls refers to secondary sexual development occurring earlier than the lower end of normal for the onset of puberty. It might be the presenting feature of a serious underlying condition or signify a common variation of normal for which no treatment is necessary. Depending on the source and type of sex steroids involved, clinical findings may indicate exposure to estrogens, androgens, or both. Likewise, the onset of the PP might be gradual or abrupt and the rate of progression is variable. Recent years have witnessed exciting advancements in the understanding of the molecular genetic basis for some forms of PP in girls as well as in the development of additional treatment options. In this review an update on the most commonly encountered causes of PP in girls including their clinical presentation, pathophysiology, diagnosis, and management are provided. Recommendations regarding when to refer, and areas in particular need of additional research are also delineated.


Assuntos
Puberdade Precoce/etiologia , Androgênios/farmacologia , Criança , Estrogênios/farmacologia , Feminino , Humanos , Fatores de Risco , Maturidade Sexual
14.
J Pediatr Endocrinol Metab ; 32(6): 577-583, 2019 Jun 26.
Artigo em Inglês | MEDLINE | ID: mdl-31141486

RESUMO

Background Delayed puberty and hypogonadism are common in children with chronic kidney disease and in renal transplant recipients, but precocious puberty has rarely been reported in these populations. We describe six girls with precocious and/or early-onset, rapidly progressive puberty before and following renal transplantation. Methods Of 112 children under the age of 18 years (67 boys, 45 girls) who received renal transplants between 2010 and 2018, six girls presented with precocious or rapidly progressive early puberty at ages 6-7/12, 7-2/12, 7-4/12, 8, 8-8/12 and 8-11/12 years. Clinical evaluation included measurements of height, weight, body mass index (BMI), Tanner staging and bone age assessment. Gonadotropin responses to intravenous gonadotropin releasing hormone (GnRH) or intramuscular triptorelin acetate were determined. Results Tanner breast stage 3 was noted at 2-6 years following renal transplantation in five girls, four with preserved kidney function. One girl began puberty before renal transplantation. Peak luteinizing hormone (LH) and follicular stimulating hormone (FSH) levels were 6.5, 20.2, 7.83, 19.1, 9 and 2.2 mIU/mL and 13, 8.3, 8.01, 7.5, 8.1 and 7.7 mIU/mL, respectively. Treatment with an intramuscular slow-release formulation of triptorelin acetate every 4 weeks slowed progression of breast development. Conclusions Although delayed puberty is more common in children with renal disease, precocious puberty can also be seen. Evaluation of growth and puberty by a pediatric endocrinologist should be part of the routine care for all children following kidney transplantation.


Assuntos
Biomarcadores/análise , Falência Renal Crônica/cirurgia , Transplante de Rim/efeitos adversos , Complicações Pós-Operatórias , Puberdade Precoce/etiologia , Maturidade Sexual , Estatura , Peso Corporal , Criança , Estradiol/sangue , Feminino , Humanos , Hormônio Luteinizante/sangue , Prognóstico , Puberdade Precoce/sangue , Puberdade Precoce/diagnóstico
15.
Expert Rev Endocrinol Metab ; 14(4): 283-291, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-31131647

RESUMO

INTRODUCTION: Treatment of childhood brain tumors, including surgical resection and especially external beam radiation, often results in endocrine complications manifested by hypopituitarism, which can involve growth hormone deficiency, hypothyroidism, adrenal insufficiency, disorders of puberty, diabetes insipidus, and hypothalamic obesity. AREAS COVERED: A comprehensive literature search was conducted on Medline (publications from the 1990s to 01/2019) including systematic reviews, meta-analyses, longitudinal controlled studies, retrospective cohort studies, and case reports. Herein, we present an up-to-date review of the current literature regarding endocrine sequellae of childhood brain tumor survivors. EXPERT OPINION: Late endocrine sequellae can arise many years after the initial treatment of tumor, so at least annual surveillance of growth, puberty, weight, development, and endocrine status is recommended for at least 10 years after tumor therapy. This follow up should encompass childhood and adulthood among survivors. If found early, outcomes of endocrinopathies are favorable when treated appropriately. Newer tumor therapy modalities, such as proton beam radiation, offer the potential for fewer endocrine complications, but such benefit has yet to be demonstrated, and more research into short- and long-term outcomes is needed.


Assuntos
Neoplasias Encefálicas/complicações , Doenças da Hipófise/etiologia , Adolescente , Insuficiência Adrenal/etiologia , Adulto , Sobreviventes de Câncer , Criança , Pré-Escolar , Feminino , Humanos , Hipogonadismo/etiologia , Doenças Hipotalâmicas , Hipotireoidismo/etiologia , Masculino , Puberdade Precoce/etiologia
16.
BMJ Case Rep ; 12(5)2019 May 10.
Artigo em Inglês | MEDLINE | ID: mdl-31079043

RESUMO

Uniparental disomy (UPD) is a congenital disease characterised by the presence of two homologous chromosomes inherited from one parent in a diploid offspring. Maternal UPD of the chromosome 14 (UPD(14)mat, Temple syndrome) is a rare disorder with heterogeneous clinical presentation. Here, we report a case of UPD(14)mat with a small supernumerary marker chromosome in a 6-year-old baby girl, presenting endocrinological disorders and incomplete clinical presentation. She came to our attention because of precocious beginning of pubarche and normal stature. Most of Temple syndrome signs were lacking. Provocative tests diagnosed incomplete growth hormone (GH) response and confirmed precocious puberty. One year treatment with recombinant human GH and gonadotropin-releasing hormone (GnRH) agonists proved successful, increasing height and arresting puberty. We recommend provocative tests for GH in UPD(14)mat as a GH deficiency can be hidden by a concurrent precocious puberty. Concomitant human GH and GnRH analogue treatment can be pursued.


Assuntos
Hormônio do Crescimento Humano/uso terapêutico , Puberdade Precoce/tratamento farmacológico , Pamoato de Triptorrelina/uso terapêutico , Dissomia Uniparental/genética , Criança , Cromossomos Humanos Par 14/genética , Feminino , Humanos , Puberdade Precoce/etiologia
17.
Best Pract Res Clin Endocrinol Metab ; 33(3): 101273, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-31027974

RESUMO

Peripheral precocious puberty results from peripheral production of sex steroids independent of activation of the hypothalamic-pituitary gonadal axis. It is much less common than central precocious puberty. Causes are variable and can be congenital or acquired. In this review, we will discuss the diagnosis and management of the most common etiologies including congenital adrenal hyperplasia, McCune Albright syndrome, familial male-limited precocious puberty, and adrenal and gonadal tumors.


Assuntos
Hiperplasia Suprarrenal Congênita/complicações , Puberdade Precoce/etiologia , Neoplasias das Glândulas Suprarrenais/complicações , Feminino , Displasia Fibrosa Poliostótica/complicações , Humanos , Masculino , Puberdade Precoce/complicações , Puberdade Precoce/diagnóstico , Puberdade Precoce/terapia
19.
Eur J Endocrinol ; 180(5): 281-290, 2019 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-30884465

RESUMO

Objectives Childhood traumatic brain injury (TBI) is a public health issue. Our objectives were to determine the prevalence of permanent pituitary hormone deficiency and to detect the emergence of other pituitary dysfunctions or central precocious puberty several years after severe TBI. Design Follow-up at least 5 years post severe TBI of a prospective longitudinal study. Patients Overall, 66/87 children, who had endocrine evaluation 1 year post severe TBI, were included (24 with pituitary dysfunction 1 year post TBI). Main outcome measures In all children, the pituitary hormones basal levels were assessed at least 5 years post TBI. Growth hormone (GH) stimulation tests were performed 3-4 years post TBI in children with GH deficiency (GHD) 1 year post TBI and in all children with low height velocity (<-1 DS) or low IGF-1 (<-2 DS). Central precocious puberty (CPP) was confirmed by GnRH stimulation test. Results Overall, 61/66 children were followed up 7 (5-10) years post TBI (median; (range)); 17/61 children had GHD 1 year post TBI, and GHD was confirmed in 5/17 patients. For one boy, with normal pituitary function 1 year post TBI, GHD was diagnosed 6.5 years post TBI. 4/61 patients developed CPP, 5.7 (2.4-6.1) years post-TBI. Having a pituitary dysfunction 1 year post TBI was significantly associated with pituitary dysfunction or CPP more than 5 years post TBI. Conclusion Severe TBI in childhood can lead to permanent pituitary dysfunction; GHD and CPP may appear after many years. We recommend systematic hormonal assessment in children 1 year after severe TBI and a prolonged monitoring of growth and pubertal maturation. Recommendations should be elaborated for the families and treating physicians.


Assuntos
Lesões Encefálicas Traumáticas/complicações , Hipopituitarismo/etiologia , Puberdade Precoce/etiologia , Adolescente , Hormônio Adrenocorticotrópico/sangue , Lesões Encefálicas Traumáticas/sangue , Criança , Pré-Escolar , Feminino , Seguimentos , Hormônio do Crescimento Humano/sangue , Humanos , Hipopituitarismo/sangue , Lactente , Masculino , Estudos Prospectivos , Puberdade Precoce/sangue , Tireotropina/sangue
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